Mark I McCarthy

Summary

Affiliation: University of Oxford
Country: UK

Publications

  1. ncbi request reprint Growing evidence for diabetes susceptibility genes from genome scan data
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
    Curr Diab Rep 3:159-67. 2003
  2. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
  3. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
  4. ncbi request reprint Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Diabetes 55:2640-4. 2006
  5. ncbi request reprint Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1884-9. 2006
  6. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
  7. ncbi request reprint Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Diabetes 55:2541-8. 2006
  8. ncbi request reprint Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
    Diabetes 55:2272-6. 2006
  9. ncbi request reprint The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
    Minal Desai
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1890-4. 2006
  10. ncbi request reprint Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK
    Clin Endocrinol (Oxf) 66:513-7. 2007

Detail Information

Publications93

  1. ncbi request reprint Growing evidence for diabetes susceptibility genes from genome scan data
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK
    Curr Diab Rep 3:159-67. 2003
    ..The current and future value of genome-wide linkage information in the search for type 2 diabetes susceptibility effects is also discussed...
  2. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
    ..This study examined how differences in the BMI distribution of type 2 diabetic case subjects affected genome-wide patterns of type 2 diabetes association and considered the implications for the etiological heterogeneity of type 2 diabetes...
  3. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  4. ncbi request reprint Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
    Diabetes 55:2640-4. 2006
    ..4 x 10(-14) combining case-control and family-based analyses for rs4506565) exceeds genome-wide significance criteria and clearly establishes TCF7L2 as a type 2 diabetes susceptibility gene of substantial importance...
  5. ncbi request reprint Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1884-9. 2006
    ....
  6. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  7. ncbi request reprint Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Diabetes 55:2541-8. 2006
    ..These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for the chromosome 1q linkage. They reveal only limited evidence for replication of USF1 effects on continuous metabolic traits...
  8. ncbi request reprint Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach
    Anna L Gloyn
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford, UK
    Diabetes 55:2272-6. 2006
    ..Using a study sufficiently powered to detect odds ratios of <1.2, we conclude that common variation in the TNDM region does not play an important role in the genetic susceptibility to type 2 diabetes...
  9. ncbi request reprint The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
    Minal Desai
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1890-4. 2006
    ..In conclusion, differences in VNTR-encoded susceptibility do not explain the differences in clinical presentation that distinguish classical type 1 diabetes and LADA...
  10. ncbi request reprint Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK
    Clin Endocrinol (Oxf) 66:513-7. 2007
    ..We characterized the metabolic and endocrine profiles of PCOS women who are oligomenorrhoeic but normoandrogenaemic, and compared these to other PCOS women and controls...
  11. pmc Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q
    Inga Prokopenko
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:1704-9. 2009
    ..We performed common variant fine-mapping across a 23-Mb interval in a multiethnic sample to search for variants responsible for this linkage signal...
  12. pmc Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes
    Aparna Pal
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes Care 33:252-7. 2010
    ..We evaluated serum 1,5AG in a range of diabetes subtypes as an adjunct for defining diabetes etiology...
  13. pmc Variants in MTNR1B influence fasting glucose levels
    Inga Prokopenko
    1 Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK 2 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK 3 These authors contributed equally to this work
    Nat Genet 41:77-81. 2009
    ..Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci...
  14. doi request reprint Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, UK
    Eur J Endocrinol 158:511-6. 2008
    ..Abnormal ghrelin regulation may influence the development of obesity-associated conditions including polycystic ovary syndrome (PCOS). Our aim was to compare ghrelin regulation between PCOS cases and controls...
  15. ncbi request reprint An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 37:1320-2. 2005
    ....
  16. pmc Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects
    Katharine R Owen
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, U K
    Diabetes 56:879-83. 2007
    ..However, in a meta-analysis including other available data, there is evidence that rs4641 has a modest effect on diabetes susceptibility (1.10 [1.04-1.16], P = 0.001)...
  17. pmc Genome-wide association scan allowing for epistasis in type 2 diabetes
    Jordana T Bell
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Ann Hum Genet 75:10-9. 2011
    ..Our results demonstrate the feasibility of systematic scans in GWA data, but confirm that single-locus association can underlie and obscure multilocus findings...
  18. doi request reprint Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    Mark I McCarthy
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Rev Genet 9:356-69. 2008
    ....
  19. pmc Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes
    Bahram Jafar-Mohammadi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    PLoS ONE 4:e6615. 2009
    ....
  20. pmc Assessing association between protein truncating variants and quantitative traits
    Manuel A Rivas
    Wellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, UK, Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Department of Medicine, Oxford OX3 7LJ, UK, NIHR Oxford Biomedical Research Centre, OUH Trust, Oxford OX3 7LE, UK and Department of Statistics, University of Oxford, Oxford OX1 3TG, UK
    Bioinformatics 29:2419-26. 2013
    ..We propose a Bayesian modelling framework for the analysis of protein truncating variants and quantitative traits...
  21. ncbi request reprint Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Eur J Hum Genet 15:679-84. 2007
    ..In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded...
  22. pmc The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis
    Martijn van de Bunt
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    PLoS ONE 8:e55272. 2013
    ..In conclusion, we have described the miRNA profile of human islets and beta-cells and provide evidence linking islet miRNAs to T2D pathogenesis...
  23. doi request reprint Type 2 diabetes: new genes, new understanding
    Inga Prokopenko
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Trends Genet 24:613-21. 2008
    ....
  24. ncbi request reprint Genome-wide association scans for Type 2 diabetes: new insights into biology and therapy
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Trends Pharmacol Sci 28:598-601. 2007
    ..Here, we provide an overview of the main recent findings and discuss their significance in providing biological insights and their translational implications...
  25. ncbi request reprint Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 53:3319-22. 2004
    ....
  26. pmc Evaluation of common type 2 diabetes risk variants in a South asian population of sri lankan descent
    Neelam Hassanali
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, United Kingdom
    PLoS ONE 9:e98608. 2014
    ..This study aims to establish whether common variants conferring T2D-risk in Europeans contribute to T2D-susceptibility in the South Asian population of Sri Lanka...
  27. pmc Mutations in HNF1A result in marked alterations of plasma glycan profile
    Gaya Thanabalasingham
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 62:1329-37. 2013
    ..In conclusion, glycan profiles are altered substantially in HNF1A-MODY, and the DG9-glycan index has potential clinical value as a diagnostic biomarker of HNF1A dysfunction...
  28. pmc Metabolic profiling in Maturity-onset diabetes of the young (MODY) and young onset type 2 diabetes fails to detect robust urinary biomarkers
    Anna L Gloyn
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom
    PLoS ONE 7:e40962. 2012
    ..Our results have implications for studies investigating metabolic profiles in complex traits including T2D...
  29. ncbi request reprint Identifying susceptibility variants for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK
    Methods Mol Biol 376:235-50. 2007
    ....
  30. pmc Genome-wide association studies: potential next steps on a genetic journey
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK
    Hum Mol Genet 17:R156-65. 2008
    ..We outline possible next steps that may help accelerate progress from genetic studies to the biological knowledge that can guide the development of predictive, preventive, or therapeutic measures...
  31. doi request reprint Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging
    Thomas M Barber
    Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Eur Radiol 20:1207-13. 2010
    ..To evaluate and compare MRI-based ovarian morphology in groups of women with polycystic ovary syndrome (PCOS) and controls...
  32. ncbi request reprint Genetics of type 2 diabetes
    Katharine R Owen
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Old Road, Headington, Oxford, OX3 7LJ, UK
    Curr Opin Genet Dev 17:239-44. 2007
    ....
  33. pmc Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
    Chris C A Spencer
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    Hum Mol Genet 20:345-53. 2011
    ..We found no support for the previously reported SNP association in 12q12/LRRK2. We also found an association of the two SNPs in 4q22/SNCA with the age of onset of the disease...
  34. ncbi request reprint Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, United Kingdom
    J Clin Endocrinol Metab 93:999-1004. 2008
    ..Obesity-related predisposition to polycystic ovary syndrome (PCOS) could reflect overall adiposity and/or regional accumulation of abdominal visceral fat...
  35. doi request reprint Serum levels of retinol-binding protein 4 and adiponectin in women with polycystic ovary syndrome: associations with visceral fat but no evidence for fat mass-independent effects on pathogenesis in this condition
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology, and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, United Kingdom
    J Clin Endocrinol Metab 93:2859-65. 2008
    ..Insulin resistance, which associates with levels of retinol-binding protein 4 (RBP4) and adiponectin, is implicated in the development of polycystic ovary syndrome (PCOS)...
  36. pmc Evaluating the results of genomewide linkage scans of complex traits by locus counting
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute, Imperial College, London, United Kingdom
    Am J Hum Genet 71:1175-82. 2002
    ..By taking account of the effects of reduced data informativeness on the expected number of regions showing evidence for linkage, a more meaningful, and less conservative, evaluation of the results from such linkage studies is possible...
  37. ncbi request reprint How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 28:1-10. 2005
    ....
  38. ncbi request reprint Insulin resistance and beta-cell dysfunction in normoglycaemic European women with a history of gestational diabetes
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, London, UK
    Clin Endocrinol (Oxf) 59:289-97. 2003
    ..Women with previous gestational diabetes (GDM) are at increased risk of subsequent type 2 diabetes. To characterize early metabolic abnormalities associated with this increased risk, we studied normoglycaemic women with a history of GDM...
  39. pmc A powerful approach to sub-phenotype analysis in population-based genetic association studies
    Andrew P Morris
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genet Epidemiol 34:335-43. 2010
    ....
  40. pmc Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford OX3 7LJ, UK, and The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX7 7BN, UK
    Genome Med 1:66. 2009
    ..Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies...
  41. pmc Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations
    Katharine R Owen
    Oxford Centre for Diabetes Endocrinology and Metabolism, University of Oxford, Oxford, U K
    Diabetes Care 33:1919-24. 2010
    ..We hypothesized that serum levels of high-sensitivity C-reactive protein (hs-CRP) could represent a clinically useful biomarker for the identification of HNF1A mutations causing maturity-onset diabetes of the young (MODY)...
  42. pmc New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism
    Momoko Horikoshi
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Nat Genet 45:76-82. 2013
    ..Our findings highlight genetic links between fetal growth and postnatal growth and metabolism...
  43. pmc Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
    Andrew P Morris
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Nat Genet 44:981-90. 2012
    ..Exploration of the enlarged set of susceptibility loci implicates several processes, including CREBBP-related transcription, adipocytokine signaling and cell cycle regulation, in diabetes pathogenesis...
  44. pmc Rapid testing of gene-gene interactions in genome-wide association studies of binary and quantitative phenotypes
    Kanishka Bhattacharya
    Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genet Epidemiol 35:800-8. 2011
    ..Application of this interaction strategy to GWA studies of T2D and obesity highlights potential novel signals of association, which warrant follow-up in larger cohorts...
  45. ncbi request reprint Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital Site, Headington, Oxford OX3 7LJ and Wellcome Trust Centre for Human Genetics, Oxford OX3 7BN, UK
    Hum Mol Genet 13:R33-41. 2004
    ....
  46. pmc Genome-wide association studies in type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Curr Diab Rep 9:164-71. 2009
    ....
  47. ncbi request reprint Type 2 diabetes and obesity: genomics and the clinic
    Mary E Travers
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Old Road, Headington, Oxford OX3 7LJ, UK
    Hum Genet 130:41-58. 2011
    ..It will consider the progress made in translating genetic knowledge into clinical utility, the challenges remaining, and the realistic potential for further progress...
  48. ncbi request reprint Comprehensive human adipose tissue mRNA and microRNA endogenous control selection for quantitative real-time-PCR normalization
    Matt J Neville
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, UK
    Obesity (Silver Spring) 19:888-92. 2011
    ..This test clearly indicated that spurious results could arise from using less stable control transcripts for mRNA and microRNA qRT-PCR...
  49. ncbi request reprint Metabolic syndrome in polycystic ovary syndrome
    Thomas M Barber
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, Oxford University, Oxford, UK
    Endokrynol Pol 58:34-41. 2007
    ..We also review the literature on the prevalence of MS in women with PCOS and consider the impact that the particular criteria used to diagnose both MS and PCOS may have had on these estimates of prevalence...
  50. pmc Variability of gene expression profiles in human blood and lymphoblastoid cell lines
    Josine L Min
    Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, Oxford, UK
    BMC Genomics 11:96. 2010
    ....
  51. ncbi request reprint Genetics of type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Campus, Old Road, Oxford OX3 7LJ, UK
    Curr Diab Rep 6:147-54. 2006
    ..The advent of genuinely genome-wide association scans and the prospects for combining genetics with high-throughput genomics are additional sources of optimism for the future...
  52. pmc A Central Role for GRB10 in Regulation of Islet Function in Man
    Inga Prokopenko
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London, United Kingdom
    PLoS Genet 10:e1004235. 2014
    ..The data also emphasize the need in genetic studies to consider whether risk alleles are inherited from the mother or the father. ..
  53. doi request reprint TCF7L2 and Diabetes: A Tale of Two Tissues, and of Two Species
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK Electronic address
    Cell Metab 17:157-9. 2013
    ..A recent paper in Cell (Boj et al., 2012) using rodent models to examine how diabetes-associated variants near TCF7L2 perturb metabolic regulation provides surprising results...
  54. pmc Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population
    Jordana T Bell
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    PLoS Genet 8:e1002629. 2012
    ..Our results suggest that in a small set of genes DNA methylation may be a candidate mechanism of mediating not only environmental, but also genetic effects on age-related phenotypes...
  55. pmc New methods for finding disease-susceptibility genes: impact and potential
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, and Wellcome Trust Centre for Human Genetics, Headington, Oxford 0X3 7LJ, UK
    Genome Biol 4:119. 2003
    ..Improved techniques for defining disease-gene location and evaluating the biological candidacy of regional transcripts will hasten disease-gene discovery...
  56. ncbi request reprint Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Site, Old Road, Headington, Oxford OX3 7LJ, U K
    Diabetes 52:1300-5. 2003
    ....
  57. ncbi request reprint Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort
    Amanda J Bennett
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford, UK
    Diabetes 53:2126-31. 2004
    ..09). Studies of this large population-based cohort have failed to generate convincing evidence that INS-VNTR variation influences early growth...
  58. ncbi request reprint The fat mass- and obesity-associated locus and dietary intake in children
    Nicholas J Timpson
    MRC CAiTE Centre, Department of Social Medicine, Bristol University, Bristol, UK
    Am J Clin Nutr 88:971-8. 2008
    ..A region of chromosome 16 containing the fat mass-and obesity-associated gene (FTO) is reproducibly associated with fat mass and body mass index (BMI), risk of obesity, and adiposity...
  59. pmc Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes
    Steven Wiltshire
    Imperial College Genetics and Genomics Research Institute and Division of Medicine, Imperial College, London, United Kingdom
    Am J Hum Genet 70:543-6. 2002
    ..Our findings extend similar recent studies in Scandinavian and Quebecois populations, adding further evidence that height is indeed under the control of multiple genes...
  60. doi request reprint Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries
    Stephen Franks
    Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Hospital, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 93:3396-402. 2008
    ..Polycystic ovary syndrome (PCOS) is a common endocrinopathy of uncertain etiology but with strong evidence for a genetic contribution...
  61. pmc A genome-wide association study identifies protein quantitative trait loci (pQTLs)
    David Melzer
    Department of Epidemiology and Public Health, Institute of Biomedical and Clinical Sciences, Peninsula College of Medicine and Dentistry, University of Exeter, Devon, United Kingdom
    PLoS Genet 4:e1000072. 2008
    ..These include the presence of strong genetic effects in cis locations. The identification of protein quantitative trait loci (pQTLs) may be a powerful complementary method of improving our understanding of disease pathways...
  62. pmc Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....
  63. pmc The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    BMC Med Genet 7:51. 2006
    ..We performed a large case-control and family-based study to test the hypothesis that KL-VS is associated with type 2 diabetes in a UK Caucasian population...
  64. ncbi request reprint Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, United Kingdom
    JOP 7:295-302. 2006
    ..The single nucleotide polymorphisms C-2578A (rs699947), G-1154A (rs1570360) and G-634C (rs2010963) in the 5'-region of VEGF are associated with altered serum concentrations of the protein...
  65. ncbi request reprint Development of polycystic ovary syndrome: involvement of genetic and environmental factors
    Stephen Franks
    Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Hospital, UK
    Int J Androl 29:278-85; discussion 286-90. 2006
    ..In this review, this hypothesis is explored in the light of clinical, biochemical and genetic research...
  66. ncbi request reprint A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population
    Michael N Weedon
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK
    Diabetes 54:2487-91. 2005
    ..31 [1.08-1.59], P = 0.007). Further studies are required to investigate this association, demonstrating the difficulty of defining the role of rare (<5%) alleles in type 2 diabetes risk...
  67. ncbi request reprint Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus
    Shiro Maeda
    Laboratory for Diabetic Nephropathy, SNP Research Center, The Institute of Physical and Chemical Research, 1 7 22 Suehiro cho, Tsurumi ku, Yokohama, Kanagawa, 230 0045, Japan
    J Hum Genet 50:283-92. 2005
    ..These results suggest that TFAP2B might be a new candidate for conferring susceptibility to type 2 diabetes and contribute to the pathogenesis of type 2 diabetes...
  68. ncbi request reprint Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
    Brenda L Powell
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    J Clin Endocrinol Metab 90:2988-93. 2005
    ..Variation at the insulin gene VNTR (variable number tandem repeat) minisatellite has been reported to be associated with polycystic ovary syndrome (PCOS), but findings have been inconsistent and all studies have featured small sample sizes...
  69. ncbi request reprint Remapping the insulin gene/IDDM2 locus in type 1 diabetes
    Bryan J Barratt
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Diabetes 53:1884-9. 2004
    ....
  70. ncbi request reprint Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone
    Michelle Gaasenbeek
    Genomic Medicine, Faculty of Medicine, Reproductive and Developmental Biology, Imperial College, Hammersmith Campus, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 89:2408-13. 2004
    ..These studies indicate that the strength of, and indeed the existence of, associations between CYP11A promoter variation and androgen-related phenotypes has been substantially overestimated in previous studies...
  71. ncbi request reprint Manifestations of metabolic syndrome after hypertensive pregnancy
    Anneli Pouta
    Academy of Finland, Department of Public Health Science and General Practice, University of Oulu, Aapistie 1, PO Box 5000, FIN 90014 University of Oulu, Finland
    Hypertension 43:825-31. 2004
    ..The associations remained after adjustment for participant's own birth weight or gestational age. Women born before gestational week 37 had a 2-fold risk for gestational hypertension in their first pregnancy (RR: 2.53; 95% CI: 1.0, 6.2)...
  72. pmc Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility
    Michael N Weedon
    Am J Hum Genet 73:1208-12. 2003
  73. ncbi request reprint Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11
    Timothy M Frayling
    Department of Diabetes and Vascular Medicine, Peninsula Medical School, Exeter, UK
    Diabetes 52:1857-63. 2003
    ..Our data confirm our hypothesis that families segregating young-onset type 2 diabetes represent a more powerful resource for defining susceptibility genes by linkage...
  74. ncbi request reprint Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    Anna L Gloyn
    Centre for Molecular Genetics, Peninsula Medical School, Exeter, UK
    Diabetes 52:568-72. 2003
    ..000002); but the ABCC8 variants were not associated. Our results confirm that E23K increases risk of type 2 diabetes and show that large-scale association studies are important for the identification of diabetes susceptibility alleles...
  75. ncbi request reprint Hormonal profile of women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland birth cohort 1966 study
    Saara Taponen
    Department of Clinical Chemistry, University of Oulu and Oulu University Hospital, 90014 Oulu, Finland
    J Clin Endocrinol Metab 88:141-7. 2003
    ..These symptoms are markers of the underlying metabolic alterations possibly associated with increased health risks in later life...
  76. ncbi request reprint Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome
    Nicole Draper
    Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Clin Endocrinol (Oxf) 65:64-70. 2006
    ....
  77. pmc Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin-resistant mice
    Marc Emmanuel Dumas
    Department of Biological Chemistry, Imperial College London, South Kensington, London SW7 2AZ, United Kingdom
    Proc Natl Acad Sci U S A 103:12511-6. 2006
    ..These data also indicate that gut microbiota may play an active role in the development of insulin resistance...
  78. ncbi request reprint Sustained endogenous glucose production, diminished lipolysis and non-esterified fatty acid appearance and oxidation in non-obese women at high risk of type 2 diabetes
    Shareen Forbes
    Section of Endocrinology and Metabolic Medicine, Faculty of Medicine, Imperial College London, St Mary s Hospital, 2nd Floor, Mint Wing, Praed Street, London W2 1NY, UK
    Eur J Endocrinol 155:469-76. 2006
    ..To evaluate early defects in glucose production, lipolysis and fatty acid oxidation in non-obese, normally glucose tolerant women, who are nevertheless at risk of type 2 diabetes...
  79. pmc Combining information from common type 2 diabetes risk polymorphisms improves disease prediction
    Michael N Weedon
    Department of Diabetes Research and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
    PLoS Med 3:e374. 2006
    ..The value of analyzing multiple alleles simultaneously is not well studied. This is often because, for any given disease, very few common risk alleles have been confirmed...
  80. pmc Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI
    Rachel M Freathy
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Rd, Exeter, EX1 2LU, UK
    Diabetes 57:1419-26. 2008
    ..Increased BMI is associated with diabetes risk factors, including raised insulin, glucose, and triglycerides. We aimed to test whether FTO genotype is associated with variation in these metabolic traits...
  81. pmc Regulation of Fto/Ftm gene expression in mice and humans
    George Stratigopoulos
    Division of Molecular Genetics, Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA
    Am J Physiol Regul Integr Comp Physiol 294:R1185-96. 2008
    ..Animals and humans with various genetic interruptions of FTO or FTM have phenotypes reminiscent of aspects of the Bardet-Biedl obesity syndrome, a confirmed "ciliopathy." FTM has recently been shown to be a ciliary basal body protein...
  82. pmc Meta-analysis of 23 type 2 diabetes linkage studies from the International Type 2 Diabetes Linkage Analysis Consortium
    Weihua Guan
    Department of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, Michigan 48109 2029, USA
    Hum Hered 66:35-49. 2008
    ..The International Type 2 Diabetes Linkage Analysis Consortium was formed to localize type 2 diabetes predisposing variants based on 23 autosomal linkage scans...
  83. doi request reprint Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity
    Cecilia M Lindgren
    Wellcome Trust Centre for Human Genetics at the University of Oxford, Oxford, UK
    Nat Clin Pract Endocrinol Metab 4:156-63. 2008
    ..Second, with continuing efforts to identify additional genetic variants, it may become possible to use patterns of predisposition to tailor individual management of these conditions...
  84. pmc Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    Paul R Burton
    Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
    Nat Genet 39:1329-37. 2007
    ....
  85. ncbi request reprint Early metabolic defects following gestational diabetes in three ethnic groups of anti-GAD antibodies negative women with normal fasting glucose
    Eleni Kousta
    Section of Endocrinology and Metabolic Medicine, Imperial College Faculty of Medicine, St Mary s Hospital, Norfolk Place, London W2 1PG, UK
    Hormones (Athens) 6:138-47. 2007
    ..To characterise early metabolic abnormalities and the impact of ethnicity following gestational diabetes mellitus (GDM)...
  86. ncbi request reprint Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years
    Sreena Das
    Women s Centre Level 3, University of Oxford, Oxford OX3 7LJ, United Kingdom
    J Clin Endocrinol Metab 92:3219-23. 2007
    ..In small studies, variation within the OriB origin of replication (at mt16189 in particular) has been associated with both early growth and adult metabolic phenotypes and may contribute to life-course relationships between the two...
  87. pmc A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    Timothy M Frayling
    Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
    Science 316:889-94. 2007
    ..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass...
  88. ncbi request reprint Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes
    Maria Gueorguiev
    Reader in Endocrine Research, Department of Endocrinology, Room 114C, John Vane Science Centre, Barts and the London Medical School, Charterhouse Square, London, UK
    J Clin Endocrinol Metab 92:2201-4. 2007
    ..Recently, a quantitative trait locus for stature was reported on chromosome 3p26 in patients with type 2 diabetes...
  89. pmc Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits
    Winston S Chu
    Division of Endocrinology 111J 1 LR, Department of Medicine, University of Arkansas for Medical Sciences, John L McClellan Memorial Veterans Hospital, 4700 W 7th Street, Little Rock, AR 72205, USA
    Diabetes 56:856-62. 2007
    ..ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance...
  90. ncbi request reprint Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes
    Wendy Winckler
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA
    Diabetes 56:685-93. 2007
    ..We conclude that although rare variants in these six genes explain most cases of MODY, common variants in these same genes contribute very modestly, if at all, to the common form of type 2 diabetes...
  91. ncbi request reprint Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes
    Swapan Kumar Das
    Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
    Diabetes 55:2631-9. 2006
    ..Our data suggest that sequences in or upstream of DUSP12 may contribute to type 2 diabetes susceptibility, but the lack of replication suggests a small effect size...
  92. ncbi request reprint Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome
    Lema Haddad
    Complex Traits Analysis Group, Department of Medicine, Imperial College Genetics and Genomics Research Institute, Imperial College School of Medicine, London W12 0NN, UK
    J Clin Endocrinol Metab 87:2606-10. 2002
    ..40-1.71). No associations were seen with intermediate traits of relevance to diabetes and PCOS pathogenesis. We have found no evidence from these analyses that CAPN10 gene variation influences susceptibility to PCOS...